Variant report

Variant	esv3407648
Chromosome Location	chr8:6737442-6741940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:6738432-6738565	H1-hESC	embryonic stem cell:	n/a	n/a
2	RXRA	chr8:6738326-6738583	HepG2	liver:	n/a	n/a
3	SUZ12	chr8:6739737-6739973	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF7L2	chr8:6739419-6739550	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6739980..6742198-chr8:6744981..6748845,3	K562	blood:

Variant related genes	Relation type
DEFB1	TF binding region

Extended variants
information (count: 353 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55649909	chr8:6737454-6737455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533920939	chr8:6737455-6737456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554093928	chr8:6737485-6737486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577114657	chr8:6737489-6737490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55732742	chr8:6737496-6737497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556342473	chr8:6737502-6737503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576533123	chr8:6737504-6737505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544312451	chr8:6737542-6737543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560798374	chr8:6737553-6737554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574419691	chr8:6737555-6737556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540224047	chr8:6737567-6737568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5743401	chr8:6737582-6737583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs183897210	chr8:6737605-6737606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55839147	chr8:6737611-6737612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138423476	chr8:6737621-6737622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189399725	chr8:6737622-6737623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369432067	chr8:6737624-6737625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531387572	chr8:6737625-6737626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548692519	chr8:6737634-6737635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397748614	chr8:6737644-6737645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5743399	chr8:6737645-6737646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs56027273	chr8:6737652-6737653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529759269	chr8:6737668-6737669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369811096	chr8:6737687-6737688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192786210	chr8:6737704-6737705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184875759	chr8:6737707-6737708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149276834	chr8:6737727-6737728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55925220	chr8:6737729-6737730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570266658	chr8:6737748-6737749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374560073	chr8:6737750-6737751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189997316	chr8:6737758-6737759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146168415	chr8:6737777-6737778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2472143	chr8:6737783-6737784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553821875	chr8:6737792-6737793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137888370	chr8:6737800-6737801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2977828	chr8:6737814-6737815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181395935	chr8:6737844-6737845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538677544	chr8:6737861-6737862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372993547	chr8:6737875-6737876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2702881	chr8:6737881-6737882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531582708	chr8:6737934-6737935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541653081	chr8:6737935-6737936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186322793	chr8:6737940-6737941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35554693	chr8:6737944-6737945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527783287	chr8:6737986-6737987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142236348	chr8:6738037-6738038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146401613	chr8:6738039-6738040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189214767	chr8:6738069-6738070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181804323	chr8:6738084-6738085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185201137	chr8:6738107-6738108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6729200-6738400	Weak transcription	Dnd41	blood
2	chr8:6736000-6741800	Weak transcription	Esophagus	oesophagus
3	chr8:6736000-6744800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:6736600-6739000	Weak transcription	Pancreas	Pancrea
5	chr8:6738400-6739000	Enhancers	Dnd41	blood
6	chr8:6739000-6739200	Flanking Active TSS	Dnd41	blood
7	chr8:6739000-6739400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:6739000-6739600	ZNF genes & repeats	Pancreas	Pancrea
9	chr8:6739200-6739400	Enhancers	Dnd41	blood
10	chr8:6739400-6739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:6739400-6739600	Flanking Active TSS	Dnd41	blood
12	chr8:6739600-6740000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:6739600-6741200	Enhancers	Dnd41	blood
14	chr8:6739600-6741800	Weak transcription	Pancreas	Pancrea
15	chr8:6740000-6741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:6741200-6746600	Weak transcription	Dnd41	blood
17	chr8:6741600-6741800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:6741800-6742000	Enhancers	Esophagus	oesophagus
19	chr8:6741800-6742000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr8:6741800-6742000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr8:6741800-6742400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:6741800-6742400	Enhancers	Gastric	stomach
23	chr8:6741800-6742400	Enhancers	Pancreas	Pancrea

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